E56K (p.Glu56Lys) variant of NCF1 (Neutrophil cytosol factor 1)
E56K (p.Glu56Lys) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- gnomAD 7-74779093-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 33.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.336
- Literature evidence available